Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease

Perforin: structure, function, and role in human immunopathology

(2015) Ilia Voskoboinik et al.   IMMUNOLOGICAL REVIEWS

The Tec Kinases Itk and Rlk Regulate NKT Cell Maturation, Cytokine Production, and Survival

(2014) M. Felices et al.   JOURNAL OF IMMUNOLOGY

Rapid and Sustained Remission of Systemic Juvenile Idiopathic Arthritis-Associated Macrophage Activation Syndrome Through Treatment With Anakinra and Corticosteroids

(2012) Normi Bruck et al.   JCR-JOURNAL OF CLINICAL RHEUMATOLOGY

SLAM Family Receptors and SAP Adaptors in Immunity

(2011) Jennifer L. Cannons et al.   Annual Review of Immunology

Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward

(2011) Rebecca A. Marsh et al.   BRITISH JOURNAL OF HAEMATOLOGY

Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management

(2011) C. Gholam et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies

(2011) Nima Rezaei et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

XIAP Regulates Cytosol-Specific Innate Immunity to Listeria Infection

(2011) Laura D. Bauler et al.   PLoS Pathogens

The role of SAP and SLAM family molecules in the humoral immune response

(2010) Cindy S. Ma et al.   Annals of the New York Academy of Sciences

Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation

(2010) R. A. Marsh et al.   BLOOD

Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets

(2010) A. D. Hislop et al.   BLOOD

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(2010) J. P. Schmid et al.   BLOOD

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

(2010) R. A. Marsh et al.   BLOOD

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

(2010) C. Booth et al.   BLOOD

X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma

(2010) Nima Rezaei et al.   BRITISH JOURNAL OF HAEMATOLOGY

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach

(2010) P. Stepensky et al.   HAEMATOLOGICA

Optimal Germinal Center Responses Require a Multistage T Cell:B Cell Adhesion Process Involving Integrins, SLAM-Associated Protein, and CD84

(2010) Jennifer L. Cannons et al.   IMMUNITY

Deficiency of the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development

(2010) Noemi Nagy et al.   IMMUNOLOGY LETTERS

Deficiency of XIAP Leads to Sensitization forChlamydophila pneumoniaePulmonary Infection and Dysregulation of Innate Immune Response in Mice

(2010) Hridayesh Prakash et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency

(2010) Rebecca A. Marsh et al.   JOURNAL OF IMMUNOLOGICAL METHODS

The structural basis for membrane binding and pore formation by lymphocyte perforin

(2010) Ruby H. P. Law et al.   NATURE

Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis

(2010) Matthew P. Strout et al.   Nature Reviews Clinical Oncology

Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)

(2010) Christine A. Macartney et al.   PEDIATRIC BLOOD & CANCER

The outcome of hematopoietic stem cell transplantation in Korean children with hemophagocytic lymphohistiocytosis

(2010) Hoi Soo Yoon et al.   PEDIATRIC TRANSPLANTATION

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

(2010) Kozo Nagai et al.   PLoS One

Viral infections associated with haemophagocytic syndrome

(2010) Nadine Rouphael Maakaroun et al.   REVIEWS IN MEDICAL VIROLOGY

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

(2009) Udo zur Stadt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP)

(2009) Julie M. Rumble et al.   CELLULAR IMMUNOLOGY

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations

(2009) Rebecca A. Marsh et al.   CLINICAL IMMUNOLOGY

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency

(2009) Rebecca A. Marsh et al.   CYTOMETRY PART B-CLINICAL CYTOMETRY

A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly

(2009) M. Zhao et al.   HAEMATOLOGICA

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

(2009) H. S. Yoon et al.   HAEMATOLOGICA

The Tec kinases Itk and Rlk regulate conventional versus innate T-cell development

(2009) Amanda L. Prince et al.   IMMUNOLOGICAL REVIEWS

Tec kinases regulate T-lymphocyte development and function: new insights into the roles of Itk and Rlk/Txk

(2009) Julie A. Readinger et al.   IMMUNOLOGICAL REVIEWS

Novel Syntaxin 11 Gene (STX11) Mutation in Three Argentinean Patients with Hemophagocytic Lymphohistiocytosis

(2009) Silvia Danielian et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

(2009) Kirsten Huck et al.   JOURNAL OF CLINICAL INVESTIGATION

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

(2009) Marjorie Côte et al.   JOURNAL OF CLINICAL INVESTIGATION

The proapoptotic function of SAP provides a clue to the clinical picture of X-linked lymphoproliferative disease

(2009) N. Nagy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

XIAP mediates NOD signaling via interaction with RIP2

(2009) A. Krieg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Successful use of the anti-CD25 antibody daclizumab in an adult patient with hemophagocytic lymphohistiocytosis

(2008) Rebecca L. Olin et al.   AMERICAN JOURNAL OF HEMATOLOGY

The use of reduced-intensity stem cell transplantation in haemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis

(2008) N Cooper et al.   BONE MARROW TRANSPLANTATION

Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis

(2008) K S Baker et al.   BONE MARROW TRANSPLANTATION

Characterization ofPRF1,STX11andUNC13Dgenotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

(2008) AnnaCarin Horne et al.   BRITISH JOURNAL OF HAEMATOLOGY

Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis

(2008) AnnaCarin Horne et al.   BRITISH JOURNAL OF HAEMATOLOGY

The XLP syndrome protein SAP interacts with SH3 proteins to regulate T cell signaling and proliferation

(2008) C LI et al.   CELLULAR SIGNALLING

Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP)

(2008) S. Cesaro et al.   HAEMATOLOGICA

SAP-controlled T–B cell interactions underlie germinal centre formation

(2008) Hai Qi et al.   NATURE